Intrauterine left chamber myocardial infarction of the heart and hydrops fetalis in the recipient fetus due to twin-to-twin transfusion syndrome

A rare complication of twin-to-twin transfusion syndrome (TTTS) is described: myocardial infarction of the recipient fetus. Myocardial infarction and hydrops are considered to be consequences of hypertension in the recipient. No other organs were affected. Pathological signs of intrauterine hypertension were estimated by the thickness of vessel walls and signs of hypertrophied myocardial cells. In the heart of the recipient fetus there was a chronic myocardial infarction near the apex cordis on the anterior wall with an aneurysm 4×5 mm in diameter. Diagnosis was based on light microscopic examination. The poor myocardial systolic function resulted in hydrops. Since the mother was administered β sympathomimetics in therapeutic doses the contribution of the drug to the myocardial infarction is uncertain, but we would like to suggest this as a possible adverse effect in TTTS. The present case is the first reported myocardial infarction in connection with the syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Pulmonary stenosis and reactive right ventricular hypertrophy in the recipient fetus as a consequence of twin-to-twin transfusion

The present study describes an association between adverse outcome in the twin-to-twin transfusion syndrome (TTTS) and pulmonary stenosis or reactive right ventricular hypertrophy. Six discordant monozygotic twin pregnancies with TTTS are described. Ventricular hypertrophy and atrioventricular valvular regurgitation occurred in all the recipient twins with pulmonary valvular stenosis in three cases and infundibular stenosis in one case. The recipient twin in one pair and both twins in another pregnancy died as a consequence of immaturity but the remaining twins all survived. Surgical intervention was required in one baby for valvular pulmonary stenosis. Our observations suggest that elevated blood pressure in the transfusion recipient may play an important role in pathogenesis. We hypothesise that both pulmonary stenosis and right chamber hypertrophy are secondary to hemodynamic changes. Although we have found valvular pulmonary stenosis in three recipients and infundibular stenosis in only one, this (obstruction to outflow) could be due to right chamber hypertrophy. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatally detected double trisomy: Klinefelter and Down syndrome

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

Neanderthal medics? Evidence for food, cooking, and medicinal plants entrapped in dental calculus

Neanderthals disappeared sometime between 30,000 and 24,000?years ago. Until recently, Neanderthals were understood to have been predominantly meat-eaters; however, a growing body of evidence suggests their diet also included plants. We present the results of a study, in which sequential thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS) and pyrolysis-gas chromatography-mass spectrometry (Py-GC-MS) were combined with morphological analysis of plant microfossils, to identify material entrapped in dental calculus from five Neanderthal individuals from the north Spanish site of El Sidrón. Our results provide the first molecular evidence for inhalation of wood-fire smoke and bitumen or oil shale and ingestion of a range of cooked plant foods. We also offer the first evidence for the use of medicinal plants by a Neanderthal individual. The varied use of plants that we have identified suggests that the Neanderthal occupants of El Sidrón had a sophisticated knowledge of their natural surroundings which included the ability to select and use certain plants.     

A drowned Mesozoic bird breeding colony from the Late Cretaceous of Transylvania

Despite a rapidly improving fossil record, the reproductive biology of Mesozoic birds remains poorly known: only a handful of undisputed, isolated Cretaceous eggs (some containing embryonic remains) are known. We report here the first fossil evidence for a breeding colony of Mesozoic birds, preserved at the Late Cretaceous (Maastrichtian) Oarda de Jos (Od) site in the Sebe? area of Transylvania, Romania. A lens of calcareous mudstone with minimum dimensions of 80?cm length, 50?cm width and 20?cm depth contains thousands of tightly packed, morphologically homogenous eggshell fragments, seven near-complete eggs and neonatal and adult avialan skeletal elements. Eggshell forms 70–80?% of the matrix, and other fossils are entirely absent. The bones exhibit clear characters of the Cretaceous avialan clade Enantiornithes, and the eggshell morphology is also consistent with this identification. Both taphonomy and lithology show that the components of this lens were deposited in a single flood event, and we conclude that it represents the drowned remains of a larger enantiornithine breeding colony, swamped by rising water, washed a short distance and deposited in a shallow, low-energy pond. The same fate often befalls modern bird colonies. Such a large concentration of breeding birds suggests aquatic feeding in this species, augments our understanding of enantiornithine biology and shows that colonial nesting was not unique to crown birds.     

Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans

Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as “maspardin.” Maspardin presents similarity to the α/β-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein–protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog (SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous “nonmammalian” species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.